NM_000088.4(COL1A1):c.4321G>A (p.Asp1441Asn)
|
rs72656351
|
0.00003
|
NM_000088.4(COL1A1):c.3469G>A (p.Gly1157Ser)
|
rs1278821174
|
0.00001
|
NM_000088.4(COL1A1):c.3865G>C (p.Val1289Leu)
|
rs780472683
|
0.00001
|
NC_000017.10:g.(?_48262863)_(48277328_?)dup
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|
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NC_000017.10:g.(?_48271690)_(48277328_?)dup
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NC_000017.11:g.(?_50198141)_(50198524_?)del
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|
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NM_000088.4(COL1A1):c.1011_1019del (p.Ala340_Pro342del)
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NM_000088.4(COL1A1):c.103+5G>A
|
rs1555575835
|
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NM_000088.4(COL1A1):c.103+5G>C
|
rs1555575835
|
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NM_000088.4(COL1A1):c.1200+2dup
|
rs1555574113
|
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NM_000088.4(COL1A1):c.1229G>C (p.Gly410Ala)
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|
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NM_000088.4(COL1A1):c.1237G>C (p.Gly413Arg)
|
rs1567760604
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NM_000088.4(COL1A1):c.1301G>C (p.Gly434Ala)
|
rs72648333
|
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NM_000088.4(COL1A1):c.1354-1G>C
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|
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NM_000088.4(COL1A1):c.1354-6_1359del
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|
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NM_000088.4(COL1A1):c.1453G>A (p.Gly485Ser)
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|
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NM_000088.4(COL1A1):c.1462G>A (p.Gly488Ser)
|
rs1328384458
|
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NM_000088.4(COL1A1):c.1517G>A (p.Gly506Asp)
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|
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NM_000088.4(COL1A1):c.1664C>G (p.Pro555Arg)
|
rs72648359
|
|
NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser)
|
rs1907330109
|
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NM_000088.4(COL1A1):c.1787G>C (p.Gly596Ala)
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|
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NM_000088.4(COL1A1):c.1821+1del
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NM_000088.4(COL1A1):c.1832G>A (p.Gly611Asp)
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NM_000088.4(COL1A1):c.1929+1_1929+6del
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|
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NM_000088.4(COL1A1):c.2048G>C (p.Gly683Ala)
|
rs1598292524
|
|
NM_000088.4(COL1A1):c.2197C>T (p.Arg733Cys)
|
rs1567757112
|
|
NM_000088.4(COL1A1):c.2291G>C (p.Gly764Ala)
|
rs72651657
|
|
NM_000088.4(COL1A1):c.2489G>A (p.Gly830Asp)
|
rs1906940342
|
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NM_000088.4(COL1A1):c.2567_2569del (p.Val856del)
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NM_000088.4(COL1A1):c.2570G>A (p.Gly857Asp)
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NM_000088.4(COL1A1):c.2667+1_2667+2del
|
rs2144551340
|
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NM_000088.4(COL1A1):c.2781_2789dup (p.Pro930_Ala931insProGlyPro)
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|
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NM_000088.4(COL1A1):c.2830-3A>G
|
rs1906853874
|
|
NM_000088.4(COL1A1):c.2929G>A (p.Gly977Ser)
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|
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NM_000088.4(COL1A1):c.2947G>A (p.Gly983Ser)
|
rs2144548099
|
|
NM_000088.4(COL1A1):c.295_298+4dup
|
rs2144593648
|
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NM_000088.4(COL1A1):c.2974G>A (p.Gly992Ser)
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|
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NM_000088.4(COL1A1):c.3208-56_3215del
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|
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NM_000088.4(COL1A1):c.3369+5G>C
|
rs1555572075
|
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NM_000088.4(COL1A1):c.3389G>A (p.Gly1130Asp)
|
rs1567753699
|
|
NM_000088.4(COL1A1):c.3407G>C (p.Gly1136Ala)
|
rs1555572013
|
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NM_000088.4(COL1A1):c.3552_3560del (p.1178GPP[4])
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|
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NM_000088.4(COL1A1):c.35T>G (p.Leu12Arg)
|
rs1555575857
|
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NM_000088.4(COL1A1):c.3656A>G (p.Asp1219Gly)
|
rs2144537008
|
|
NM_000088.4(COL1A1):c.3821A>C (p.Tyr1274Ser)
|
rs1906537608
|
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NM_000088.4(COL1A1):c.3825G>T (p.Trp1275Cys)
|
|
|
NM_000088.4(COL1A1):c.3975G>T (p.Trp1325Cys)
|
rs2144534276
|
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NM_000088.4(COL1A1):c.4103A>G (p.Tyr1368Cys)
|
|
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NM_000088.4(COL1A1):c.4193T>G (p.Ile1398Ser)
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|
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NM_000088.4(COL1A1):c.4237G>A (p.Asp1413Asn)
|
rs72656349
|
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NM_000088.4(COL1A1):c.4343G>A (p.Gly1448Asp)
|
rs2144529623
|
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NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)
|
rs72667022
|
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NM_000088.4(COL1A1):c.544-2del
|
rs2144587964
|
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NM_000088.4(COL1A1):c.544G>T (p.Gly182Cys)
|
|
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NM_000088.4(COL1A1):c.545G>T (p.Gly182Val)
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|
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NM_000088.4(COL1A1):c.572G>C (p.Gly191Ala)
|
rs67828806
|
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NM_000088.4(COL1A1):c.625G>A (p.Gly209Ser)
|
rs2144586877
|
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NM_000088.4(COL1A1):c.626G>C (p.Gly209Ala)
|
rs1907746069
|
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NM_000088.4(COL1A1):c.671G>T (p.Gly224Val)
|
rs1555574641
|
|
NM_000088.4(COL1A1):c.679G>A (p.Gly227Arg)
|
rs1567763007
|
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NM_000088.4(COL1A1):c.698G>A (p.Gly233Glu)
|
rs2144584170
|
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NM_000088.4(COL1A1):c.750+16_750+17insGCTGTTGGTGCTTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCATGTCTCCCTGTTCCCCAAACCAAAGGGACCCAGAGTGGCAAGAGAGCAGCCCGTTCACTAACACCTTTGTCCTGGGGTCTCCGTCTCTGATCTTAGAGTCCTGATCA
|
|
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NM_000088.4(COL1A1):c.770G>A (p.Gly257Glu)
|
rs1555574496
|
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NM_000088.4(COL1A1):c.805-1G>C
|
rs1598298699
|
|
NM_000088.4(COL1A1):c.805G>C (p.Gly269Arg)
|
rs72645328
|
|
NM_000088.4(COL1A1):c.82_103+11del
|
rs2144600020
|
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NM_000088.4(COL1A1):c.851G>A (p.Gly284Asp)
|
|
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NM_000088.4(COL1A1):c.958G>T (p.Gly320Cys)
|
rs2144580035
|
|